[PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome].

OBJECTIVE: To investigate alterations in PTCH2 in keratocystic odontogenic tumors (KCOT) associated with nevoid basal cell carcinoma syndrome (NBCCS). METHODS: Genomic DNA was extracted from samples of frozen lesion tissues and peripheral blood of 15 NBCCS patients with multiple KCOTs. PTCH2 mutations were detected by PCR-direct sequencing. RESULTS: 2 novel missence mutations(c.323 T>C,c.1319 C>T)of PTCH2 were identified and 9 polymorphisms (3 of which were novel) were determined in the present series. CONCLUSION: Although not as frequent as PTCH1 mutations, PTCH2 germline mutations were detectable in a subset of NBCCS patients with KCOTs. The pathogenetic role of these PTCH2 mutations is yet to be clarified.